SMPD4 Chromosome 2

Sphingomyelin phosphodiesterase 4

28 variants 28 Health Risk

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What This Gene Does

The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]

Associated Conditions (9)

Abnormal cerebral morphology

Neurodevelopmental disorder with microcephaly

arthrogryposis

and structural brain anomalies

Malignant lymphoma

large B-cell

diffuse

Inborn genetic diseases

Hepatocellular carcinoma

Key Variants

RS1406657630

Conflicting classifications of pathogenicity

Abnormal cerebral morphology, Neurodevelopmental disorder with microcephaly, arthrogryposis

Health Risk

RS143450222

Conflicting classifications of pathogenicity

Health Risk

RS2104814089

Conflicting classifications of pathogenicity

Abnormal cerebral morphology, Neurodevelopmental disorder with microcephaly, arthrogryposis

Health Risk

RS2443637

Conflicting classifications of pathogenicity

Malignant lymphoma, large B-cell, diffuse

Health Risk

RS747953273

Conflicting classifications of pathogenicity

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

RS770954294

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1169024524

Likely pathogenic

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

RS1573728266

Likely pathogenic

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

RS1688560182

Likely pathogenic

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

RS1688675737

Likely pathogenic

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

RS2467139048

Likely pathogenic

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

RS2467143206

Likely pathogenic

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Health Risk

All Variants (28)

RSID	Category	Clinical Significance	Conditions
RS1406657630	Health Risk	Conflicting classifications of pathogenicity	Abnormal cerebral morphology, Neurodevelopmental disorder with microcephaly, arthrogryposis
RS143450222	Health Risk	Conflicting classifications of pathogenicity	—
RS2104814089	Health Risk	Conflicting classifications of pathogenicity	Abnormal cerebral morphology, Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2443637	Health Risk	Conflicting classifications of pathogenicity	Malignant lymphoma, large B-cell, diffuse
RS747953273	Health Risk	Conflicting classifications of pathogenicity	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS770954294	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1169024524	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1573728266	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1688560182	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1688675737	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS2467139048	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS2467143206	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS2467143595	Health Risk	Likely pathogenic	—
RS2467146771	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS2467152962	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS2467301101	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS534879577	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS781077687	Health Risk	Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1302471394	Health Risk	Pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1391542283	Health Risk	Pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1573664291	Health Risk	Pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS1573751635	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2104803174	Health Risk	Pathogenic	—
RS2104871303	Health Risk	Pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS773722168	Health Risk	Pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS780446128	Health Risk	Pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS2467253753	Health Risk	Pathogenic/Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
RS766318490	Health Risk	Pathogenic/Likely pathogenic	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies